Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN4

CAVIN4

45 papers

RefSeq Summary

This gene encodes a protein containing two coiled-coil regions. The encoded protein promotes Rho/ROCK (Rho-kinase) signaling in cardiac muscles cells, and may facilitate myofibrillar organization. [pr...

Pfam Domains

PTRF_SDPRaa 27–264UCSCPTRF/SDPR family

Gene Aliases

HGNC Name

caveolae associated protein 4

HGNC Previous Symbol

MURC

Papers
RefSeq ID
Protein change
DNA change
1–12 of 53 variants
4 papers
NM_001018116.2
p.N128K
c.384C>G
3 papers
NM_001018116.2
p.N128K
c.384C>A
3 papers
NM_001018116.2
p.R140W
c.418C>T
2 papers
NM_001018116.2
p.S78L
c.233C>T
2 papers
NM_001018116.2
p.L153P
c.458T>C
2 papers
NM_001018116.2
p.R272H
c.815G>A
2 papers
NM_001018116.2
p.P324L
c.971C>T
2 papers
NM_001018116.2
p.E330E
c.990A>G
2 papers
NM_001018116.2
p.S364L
c.1091C>T
1 paper
NM_001018116.2
p.Q27*
c.79C>T
1 paper
NM_001018116.2
p.D28D
c.84C>T
1 paper
NM_001018116.2
p.A30V
c.89C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."